Variant Details

Variant: esv3647529

Internal ID

6687584

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:29283431..29285907	hg38	UCSC Ensembl
Inner	chr22:29283448..29285891	hg38	UCSC Ensembl
Outer	chr22:29283415..29285924	hg38	UCSC Ensembl
	chr22:29679420..29681896	hg19	UCSC Ensembl
Inner	chr22:29679437..29681880	hg19	UCSC Ensembl
Outer	chr22:29679404..29681913	hg19	UCSC Ensembl

Cytoband

22q12.2

Allele length

Assembly	Allele length
hg38	2477
hg19	2477

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv16398849, essv16398789, essv16398787, essv16398852, essv16398875, essv16398786, essv16398797, essv16398840, essv16398803, essv16398814, essv16398790, essv16398807, essv16398817, essv16398897, essv16398818, essv16398854, essv16398898, essv16398794, essv16398826, essv16398896, essv16398772, essv16398777, essv16398887, essv16398848, essv16398890, essv16398839, essv16398799, essv16398782, essv16398788, essv16398834, essv16398830, essv16398771, essv16398881, essv16398878, essv16398805, essv16398828, essv16398851, essv16398894, essv16398870, essv16398865, essv16398872, essv16398785, essv16398889, essv16398802, essv16398783, essv16398892, essv16398874, essv16398820, essv16398838, essv16398866, essv16398779, essv16398859, essv16398835, essv16398876, essv16398899, essv16398893, essv16398856, essv16398810, essv16398847, essv16398813, essv16398869, essv16398806, essv16398888, essv16398823, essv16398829, essv16398832, essv16398863, essv16398819, essv16398798, essv16398858, essv16398861, essv16398833, essv16398891, essv16398867, essv16398845, essv16398843, essv16398860, essv16398822, essv16398791, essv16398811, essv16398868, essv16398864, essv16398824, essv16398773, essv16398778, essv16398855, essv16398795, essv16398883, essv16398831, essv16398853, essv16398877, essv16398886, essv16398776, essv16398842, essv16398827, essv16398873, essv16398857, essv16398884, essv16398796, essv16398804, essv16398816, essv16398825, essv16398885, essv16398781, essv16398792, essv16398871, essv16398815, essv16398809, essv16398774, essv16398784, essv16398793, essv16398800, essv16398880, essv16398879, essv16398812, essv16398801, essv16398836, essv16398844, essv16398837, essv16398780, essv16398841, essv16398850, essv16398846, essv16398808, essv16398775, essv16398895, essv16398882, essv16398862, essv16398821

Samples

HG03559, HG02890, HG02610, HG03121, HG01965, HG03548, HG01885, HG03247, HG03057, HG02798, NA18917, HG03130, HG02323, HG02476, HG03455, HG03190, HG02624, NA18504, HG02589, HG02536, NA19190, NA18510, HG03095, NA19374, HG03082, NA19201, HG03385, HG03099, HG02952, HG02595, NA18916, HG03342, HG03246, HG03224, NA19922, HG02562, HG03460, HG03556, HG01170, NA18868, NA19917, HG03212, HG03045, NA19235, HG02588, NA19159, NA19901, HG03267, HG03058, HG03055, HG03394, HG03114, HG02882, HG03369, HG03270, HG02879, HG02716, HG02009, HG02820, HG02439, NA19247, NA19437, HG03160, HG03061, NA19175, HG02582, NA19455, NA18516, HG03457, HG02450, HG02953, HG03575, NA18871, HG02014, HG02497, HG03311, HG03123, HG03301, NA19114, HG03382, HG03476, NA19320, HG03571, HG03391, HG02585, HG01890, HG03354, NA19095, NA18858, HG01956, HG03567, HG02330, HG02282, NA19147, NA18517, NA19019, HG02308, HG02983, HG00734, NA19439, HG02941, NA19324, HG02464, HG03557, HG02814, NA19328, HG03432, HG03039, HG02095, HG03157, HG03097, HG03049, HG03410, HG03470, NA19030, HG03162, HG02947, NA19430, NA18505, NA19129, NA19316, NA19312, HG03072, HG02805, HG02808, HG03129, HG03271, HG03196, HG02760

Known Genes

EWSR1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3647529

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	129
Observed Complex	0
Frequency	n/a